TARP syndrome: genes and variants
TARP syndrome is linked to 1 analyzed protein (RBM10). 4 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to TARP syndrome
RBM10: RNA-binding protein 10
It regulates alternative pre-mRNA splicing and influences expression of proteins controlling cell growth, apoptosis, and differentiation. Loss-of-function variants cause TARP syndrome, while somatic inactivation is recurrent in lung adenocarcinoma and other cancers.
4 disease-causing and 3 uncertain variants in RBM10 are linked to TARP syndrome.
Known disease-causing variants in TARP syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RBM10 R766C | 766 | C2H2-type | Disease-causing (★★) |
| RBM10 W658C | 658 | Disease-causing (★) | |
| RBM10 R163W | 163 | RRM 1 | Disease-causing (★) |
| RBM10 R776W | 776 | C2H2-type | Disease-causing (★) |
Diseases related to TARP syndrome
- Non-small cell lung carcinoma, also linked to RBM10
- Lung adenocarcinoma, also linked to RBM10
Frequently asked questions
Which genes are linked to TARP syndrome?
In CATVariant, TARP syndrome is linked to 1 analyzed protein: RBM10 (RNA-binding protein 10).
How many genetic variants are linked to TARP syndrome?
17 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in TARP syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center